The genetics of human skin and hair pigmentation
WJ Pavan, RA Sturm - Annual review of genomics and human …, 2019 - annualreviews.org
Human skin and hair color are visible traits that can vary dramatically within and across
ethnic populations. The genetic makeup of these traits—including polymorphisms in the …
ethnic populations. The genetic makeup of these traits—including polymorphisms in the …
HERC ubiquitin ligases in cancer
J Sala-Gaston, A Martinez-Martinez, L Pedrazza… - Cancers, 2020 - mdpi.com
HERC proteins are ubiquitin E3 ligases of the HECT family. The HERC subfamily is
composed of six members classified by size into large (HERC1 and HERC2) and small …
composed of six members classified by size into large (HERC1 and HERC2) and small …
The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls
EK McMeniman, DL Duffy, K Jagirdar… - British Journal of …, 2020 - academic.oup.com
Background Skin phenotype, host genotype and ultraviolet (UV) damage play a role in the
development of melanoma. Objectives To ascertain whether the level of UV damage at the …
development of melanoma. Objectives To ascertain whether the level of UV damage at the …
'Mind your Moles' study: protocol of a prospective cohort study of melanocytic naevi
Introduction Having many melanocytic naevi or 'moles' on the skin is the strongest predictor
of melanoma; thus, much can be learnt from investigating naevi in the general population …
of melanoma; thus, much can be learnt from investigating naevi in the general population …
[HTML][HTML] Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants
JE Rayner, DL Duffy, DJ Smit, K Jagirdar, KJ Lee… - PLoS …, 2020 - journals.plos.org
Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal
melanin. This study assessed previously reported coding variants in albinism genes (TYR …
melanin. This study assessed previously reported coding variants in albinism genes (TYR …
Eye color and the risk of skin cancer
Melanoma, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most
common skin cancers. The incidence rates of all three types of skin cancers have increased …
common skin cancers. The incidence rates of all three types of skin cancers have increased …
Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients
JE Rayner, EK McMeniman, DL Duffy… - Journal of the …, 2019 - Wiley Online Library
Background Amelanotic/hypomelanotic melanoma is associated with poorer outcomes due
to a more advanced disease stage at diagnosis. Objective To determine phenotypic risks …
to a more advanced disease stage at diagnosis. Objective To determine phenotypic risks …
A ZFP42/MARK2 regulatory network reduces the damage of retinal ganglion cells in glaucoma: a study based on GEO dataset and in vitro experiments
Y Yin, S Wu, L Niu, S Huang - Apoptosis, 2022 - Springer
Glaucoma is a common disorder in which the death of retinal ganglion cells (RGCs) results
in a progressive loss of sight, even blindness. This study was performed to reveal the key …
in a progressive loss of sight, even blindness. This study was performed to reveal the key …
Investigating the genetic architecture of eye colour in a Canadian cohort
Eye color is highly variable in populations with European ancestry, ranging from low to high
quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest …
quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest …
[HTML][HTML] Benign and Malignant Iris Tumors
M Moshirfar, A Rageh, Y Ronquillo - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Iris tumors are relatively infrequent compared to similar ciliary tumors but comprise a broad
spectrum of benign and malignant pathologies. Due to the lack of metastatic potential …
spectrum of benign and malignant pathologies. Due to the lack of metastatic potential …